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Giant Axonal Neuropathy Locus Refinement To A < 590 Kb Critical Interval
(Nature Publishing Group, 2000)
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, ...
Mutations In Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy
(Univ Chicago Press, 2002)
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ...
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ...